{"Name":"Benign intracranial hypertension","DiseaseID__c":"GARD:0004561","id":4561,"encodedName":"benign-intracranial-hypertension","IsDeleted":false,"Disease_Name_Full__c":"Benign intracranial hypertension","Xref_IDs__c":"68267002; C0033845; C85035; D011559; DOID:11459; G93.2; MEDGEN:18732; MONDO:0009468; OMIM:243200; ORPHA:238624","USA_Estimate__c":"200,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"800,000 to 5,000,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0009468","Disease_Description__c":"Idiopathic intracranial hypertension is a neurological disorder characterized by isolated increased intracranial pressure manifesting with recurrent and persistent headaches, nausea, vomiting, progressive and transient obstruction of the visual field, papilledema. Visual loss can be irreversible.","GARD_Name__c":"Benign intracranial hypertension","GARD_Synonym__c":"benign intracran. hypt.; bih - benign intracranial hypertension; idiopathic intracranial hypertension; iih; iih - idiopathic intracranial hypertension; noninfective serous meningitis; nonne's syndrome; otitic hydrocephalus syndrome; pseudotumor cerebri","Curated_Disease_Description_Source__c":"GARD:0004561","Curated_Disease_Description__c":"Idiopathic intracranial hypertension (IIH), formerly known as pseudotumor cerebri, is a condition that affects the brain. Pseudotumor cerebri literally translates to \"false brain tumor.\" This term was used because symptoms of IIH resemble those of brain tumors depsite no tumor being present. Symptoms of IIH may include severe headache, nausea and vomiting, altered vision, and pulsating sounds within the head. A person with IIH may also have symptoms such as a stiff neck, back or arm pain, eye pain, and memory problems. While the exact underlying cause of IIH is not known (idiopathic), it is likely due to high fluid pressure within the skull that is due to buildup, or poor absorption, of cerebrospinal fluid (CSF). IIH most often (but not always) occurs in young, overweight, females. When symptoms of intracranial pressure have an identifiable cause such as another underlying disease or medication, the condition is instead referred to as secondary IH.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"200,000","Age_at_Onset_Snippet_Text__c":"as an Adult and as an Older Adult","SourceID__c":"ORPHA:238624","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009468","ORPHANET_ID__c":"ORPHA:238624","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipertensión intracraneal idiopática","Spanish_Description_Source__c":"ORPHA:238624","Spanish_Description__c":"La hipertensión intracraneal idiopática es un trastorno neurológico caracterizado por un incremento aislado de la presión intracraneal que se manifiesta con dolores de cabeza recurrentes y persistentes, náusea, vómitos, obstrucción progresiva y transitoria del campo visual, papiledema. La pérdida de visión puede ser irreversible.","Spanish_Disease_Name__c":"hipertensión intracraneal idiopática","Spanish_GARD_Synonym__c":"hii; hipertensión intracraneal benigna; iih; pseudotumor cerebri","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Idiopathic intracranial hypertension (IIH), formerly known as pseudotumor cerebri, is a condition that affects the brain. Pseudotumor cerebri literally translates to \"false brain tumor.\" This term was used because symptoms of IIH resemble those of brain tumors depsite no tumor being present. Symptoms of IIH may include severe headache, nausea and vomiting, altered vision, and pulsating sounds within the head. A person with IIH may also have symptoms such as a stiff neck, back or arm pain, eye pain, and memory problems. While the exact underlying cause of IIH is not known (idiopathic), it is likely due to high fluid pressure within the skull that is due to buildup, or poor absorption, of cerebrospinal fluid (CSF). IIH most often (but not always) occurs in young, overweight, females. When symptoms of intracranial pressure have an identifiable cause such as another underlying disease or medication, the condition is instead referred to as secondary IH.","Curated_Disease_Description_Source__c":"GARD:0004561","GARD_Synonym__c":"benign intracran. hypt.; bih - benign intracranial hypertension; idiopathic intracranial hypertension; iih; iih - idiopathic intracranial hypertension; noninfective serous meningitis; nonne's syndrome; otitic hydrocephalus syndrome; pseudotumor cerebri","Name":"Benign intracranial hypertension","Curated_USA_Estimate__c":"200,000","estimateUsa":"200,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Bobby Jones Chiari & Syringomyelia Foundation","Website__c":"https://bobbyjonescsf.org/"},{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Intracranial Hypertension Research Foundation","Website__c":"https://ihrfoundation.org"},{"Account_Name__c":"American Migraine Foundation","Website__c":"https://americanmigrainefoundation.org/"},{"Account_Name__c":"IIH UK","Website__c":"https://www.iih.org.uk/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Vascular Neurology","Tag_Category__c":"Specialist","curated_tag_name":"Vascular neurology"},{"Tag_Name__c":"Vascular Medicine","Tag_Category__c":"Specialist","curated_tag_name":"Vascular diseases"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:238624"},{"Age_At_Onset__c":"Elderly","Provided_By__c":"ORPHA:238624"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=68267002","Source__c":"C0033845; MONDO:0009468","Xref__c":"68267002"},{"URL__c":"https://www.orpha.net/en/disease/detail/238624","Source__c":"C0033845; MONDO:0009468; ORPHA:238624","Xref__c":"ORPHA:238624"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C011559","Source__c":"C0033845; MONDO:0009468","Xref__c":"D011559"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0033845","Source__c":"C0033845","Xref__c":"C0033845"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A11459","Source__c":"MONDO:0009468","Xref__c":"DOID:11459"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C85035","Source__c":"C0033845; MONDO:0009468","Xref__c":"C85035"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=18732","Source__c":"C0033845","Xref__c":"MEDGEN:18732"},{"URL__c":"https://www.omim.org/entry/243200","Source__c":"C0033845; MONDO:0009468; ORPHA:238624","Xref__c":"OMIM:243200"},{"URL__c":"http://purl.bioontology.org/ontology/ICD10CM/G93.2","Source__c":"MONDO:0009468","Xref__c":"G93.2"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009468","Source__c":"GARD:0004561","Xref__c":"MONDO:0009468"},{"URL__c":"https://www.ninds.nih.gov/health-information/disorders/pseudotumor-cerebri"},{"URL__c":"https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/idiopathic-intracranial-hypertension"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:238624","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of sharpness of vision resulting in the inability to see fine detail.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000622","HPO_Synonym__c":"Blurred vision","HPO_Name__c":"Blurred vision","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238624","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002013","HPO_Synonym__c":"Emesis; Throwing up; Vomiting","HPO_Name__c":"Vomiting","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238624","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormal sensation of spinning while the body is actually stationary.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002321","HPO_Synonym__c":"Dizzy spell","HPO_Name__c":"Vertigo","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238624","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002315","HPO_Synonym__c":"Headache; Headaches","HPO_Name__c":"Headache","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238624","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000613","HPO_Synonym__c":"Extreme sensitivity of the eyes to light; Light hypersensitivity; Photodysphoria","HPO_Name__c":"Photophobia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238624","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000572","HPO_Synonym__c":"Loss of vision; Vision loss; Visual loss","HPO_Name__c":"Visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238624","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A disturbance in the experience or expression of emotion, characterized by alterations in valence, intensity, frequency, or duration. It may also involve emotional responses that are mismatched, exaggerated, or incongruent relative to internal expectations or external contextual stimuli, such as experiencing negative affect in response to neutral or positive events.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100851","HPO_Name__c":"Abnormal emotional state","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238624","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A sensation of unease in the stomach together with an urge to vomit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002018","HPO_Synonym__c":"Nausea","HPO_Name__c":"Nausea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238624","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Pulsatile tinnitus is generally classified a kind of objective tinnitus, meaning that it is not only audible to the patient but also to the examiner on auscultation of the auditory canal and/or of surrounding structures with use of an auscultation tube or stethoscope. Usually, pulsatile tinnitus is heard as a lower pitched thumping or booming, a rougher blowing sound which is coincidental with respiration, or as a clicking, higher pitched rhythmic sensation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008629","HPO_Name__c":"Pulsatile tinnitus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238624","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal pattern in the quality, quantity, or characteristics of sleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002360","HPO_Synonym__c":"Difficulty sleeping; Sleep abnormality; Sleep disturbances; Sleep dysfunction; Sleep-wake disturbance; Trouble sleeping","HPO_Name__c":"Sleep disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238624","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Migraine is a chronic neurological disorder characterized by episodic attacks of headache and associated symptoms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002076","HPO_Synonym__c":"Intermittent migraine headaches; Migraine; Migraine headache; Migraine headaches","HPO_Name__c":"Migraine","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238624","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001254","HPO_Synonym__c":"Dullness; Inaction; Inactivity; Languor; Lethargy; Slowness; Torpor","HPO_Name__c":"Lethargy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238624","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002516","HPO_Synonym__c":"Intracranial hypertension; Intracranial pressure elevation; Rise in pressure inside skull","HPO_Name__c":"Increased intracranial pressure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238624","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Papilledema refers to edema (swelling) of the optic disc secondary to any factor which increases cerebral spinal fluid pressure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001085","HPO_Name__c":"Papilledema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238624","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Accumulation of substantial excess body fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001513","HPO_Synonym__c":"Having too much body fat; Obesity","HPO_Name__c":"Obesity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238624","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Seizures characterized by olfactory phenomena as its first clinical manifestation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011161","HPO_Synonym__c":"Focal olfactory seizure; Olfactory aura; Olfactory auras; Partial olfactory seizure","HPO_Name__c":"Focal sensory seizure with olfactory features","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238624","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An allergy is an immune response or reaction to substances that are usually not harmful.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012393","HPO_Synonym__c":"Allergy","HPO_Name__c":"Allergy","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238624","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000716","HPO_Synonym__c":"Depression; Depressive episode; Depressivity","HPO_Name__c":"Depression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238624","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A scintillating scotoma is a common visual aura that can precede a migraine, whereby a spot of flickering light near the center of the visual fields occurs. The spot prevents vision, and is thus termed scotoma. The scotoma can extend into one or more shimmering arcs of white or colored flashing lights.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010822","HPO_Name__c":"Scintillating scotoma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238624","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the back.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003418","HPO_Synonym__c":"Back pain","HPO_Name__c":"Back pain","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238624","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000651","HPO_Synonym__c":"Double vision","HPO_Name__c":"Diplopia","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Neurology"],"Specialist":["Neurology","Vascular Neurology","Vascular Medicine"]},"synonyms":["benign intracran. hypt."," bih - benign intracranial hypertension"," idiopathic intracranial hypertension"," iih"," iih - idiopathic intracranial hypertension"," noninfective serous meningitis"," nonne's syndrome"," otitic hydrocephalus syndrome"," pseudotumor cerebri"],"spanishId":12324,"spanishName":"seudotumor-cerebri"}